Article
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
Human mutation - 1 Jan 2012
Jackson Gail C, Mittaz-Crettol Laureane, Taylor Jacqueline A, Mortier Geert R, Spranger Juergen, Zabel Bernhard, Le Merrer Martine, Cormier-Daire Valerie, Hall Christine M, Offiah Amaka, Wright Michael J, Savarirayan Ravi, Nishimura Gen, Ramsden Simon C, Elles Rob, Bonafe Luisa, Superti-Furga Andrea, Unger Sheila, Zankl Andreas, Briggs Michael D
Abstract excerpt
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively common skeletal dysplasias resulting in short-limbed dwarfism, joint pain, and stiffness. PSACH and the largest proportion of autosomal dominant MED (AD-MED) results from mutations in cartilage oligomeric matrix protein (COMP); however, AD-MED is genetically heterogenous and can also result from mutations in matrilin-3 (MATN3) and...
Topics
- Achondroplasia
- Amino Acid Sequence
- Anion Transport Proteins
- Cartilage Oligomeric Matrix Protein
- Child
- Child, Preschool
- Collagen Type IX
- DNA Mutational Analysis